Canonical Allele Identifier: CA1139665699

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17336
• ClinVar RCV Id: RCV000018877
• dbSNP Id: rs1906960583

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190270_50190822del , CM000679.2:g.50190270_50190822del	GRCh38
NC_000017.10:g.48267631_48268183del , CM000679.1:g.48267631_48268183del	GRCh37
NC_000017.9:g.45622630_45623182del	NCBI36
NG_007400.1:g.15821_16373del , LRG_1:g.15821_16373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2341_2451+60del
ENST00000225964.9:c.2341_2451+60del
NM_000088.3:c.2341_2451+60del , LRG_1t1:c.2341_2451+60del
XM_005257058.3:c.2341_2451+60del
XM_005257059.3:c.1423_1533+60del
XM_011524341.1:c.2143_2253+60del
XM_005257058.4:c.2341_2451+60del
XM_005257059.4:c.1423_1533+60del
NM_000088.4:c.2341_2451+60del